SynthesisOrphanet journal of rare diseases2014
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.
Synthesis in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 115 citations in OpenAlex.
- Childhood-onset schizophrenia co-occurring with 3-hydroxyisobutyryl-CoA hydrolase deficiency: A rare dual diagnosis successfully treated with clozapine.Indian journal of psychiatry · 2026Article
- Mental Health Across the Metabolic Spectrum.Biological psychiatry global open science · 2025Review
- Psychiatric burden in a cohort of adults with Niemann Pick type C disease: from psychotic symptoms to frontal lobe behavioral disorders.Orphanet journal of rare diseases · 2023Article
- Topology predicts long-term functional outcome in early psychosis.Molecular psychiatry · 2021Article
- Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1.International journal of molecular sciences · 2021Article
- High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.Cerebellum (London, England) · 2020Review
- Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.Molecular genetics and metabolism · 2020Review
- Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.Molecular psychiatry · 2020Article
- Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.Nature genetics · 2019Article
- Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.CNS drugs · 2019Review
- Article
- Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.Orphanet journal of rare diseases · 2018Article
- Meta-Analysis ofToxics · 2018Article
- Inborn errors of metabolism associated with psychosis: literature review and case-control study using exome data from 5090 adult individuals.Journal of inherited metabolic disease · 2018Review
- Consensus clinical management guidelines for Niemann-Pick disease type C.Orphanet journal of rare diseases · 2018Article
- Psychiatric Aspects of Acute Porphyria: a Comprehensive Review.Current psychiatry reports · 2018Review
- Psychiatric adult-onset of urea cycle disorders: A case-series.Molecular genetics and metabolism reports · 2017Article
- Niemann-Pick type C disease - the tip of the iceberg? A review of neuropsychiatric presentation, diagnosis and treatment.BJPsych bulletin · 2017Review
- Acute psychosis in children: do not miss immune-mediated causes.Neurosciences (Riyadh, Saudi Arabia) · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveIt is important for psychiatrists to be aware of certain inborn errors of metabolism (IEMs) as these rare disorders can present as psychosis, and because definitive treatments may be available for treating the underlying metabolic cause. A systematic review was conducted to examine IEMs that often present with schizophrenia-like symptoms. DATA SOURCES: Published literature on MEDLINE was assessed regarding diseases of homocysteine metabolism (DHM; cystathionine beta-synthase deficiency [CbS-D] and homocysteinemia due to methyltetrahydrofolate reductase deficiency [MTHFR-D]), urea cycle disorders (UCD), acute porphyria (POR), Wilson disease (WD), cerebrotendinous-xanthomatosis (CTX) and Niemann-Pick disease type C (NP-C). STUDY SELECTION: Case reports, case series or reviews with original data regarding psychiatric manifestations and cognitive impairment published between January 1967 and June 2012 were included based on a standardized four-step selection process. DATA EXTRACTION: All selected articles were evaluated for descriptions of psychiatric signs (type, severity, natural history and treatment) in addition to key disease features.
resultsA total of 611 records were identified. Information from CbS-D (n = 2), MTHFR-D (n = 3), UCD (n = 8), POR (n = 12), WD (n = 11), CTX (n = 14) and NP-C publications (n = 9) were evaluated. Six non-systematic literature review publications were also included. In general, published reports did not provide explicit descriptions of psychiatric symptoms. The literature search findings are presented with a didactic perspective, showing key features for each disease and psychiatric signs that should trigger psychiatrists to suspect that psychotic symptoms may be secondary to an IEM.
conclusionIEMs with a psychiatric presentation and a lack of, or sub-clinical, neurological signs are rare, but should be considered in patients with atypical psychiatric symptoms.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.